ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579818848
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.85214201
Score
0.734449155
Score
0.3225241627
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Arg335Gly
CA377486125
NM_000314.7:c.1003C>G